SQSTM1

sequestosome 1
OMIM: 601530, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green SQSTM1 in Distal myopathies

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.33
Latest signed off version: v1.32 (16 Dec 2021)

Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Dystal Myopathy with rimmed vacuoles, 617158

    Green SQSTM1 in Neuromuscular disorders


    Version 5.177
    Latest signed off version: v5.172 (16 Dec 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • Dystal Myopathy with rimmed vacuoles, 617158

    No list SQSTM1 in Ataxia and cerebellar anomalies - narrow panel


    Version 2.65
    Latest signed off version: v2.64 (16 Dec 2021)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    Phenotypes
    • Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145

    Red SQSTM1 in Tumour predisposition - childhood onset

    Level 3: Childhood Tumours
    Level 2: Tumour syndromes
    Version 2.17
    Latest signed off version: v2.5 (4 Mar 2020)

    review Not set
    Sources
    • Expert List

    Green SQSTM1 in Sarcoma cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 1.20

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Paget disease of bone 3 167250
    • Osteosarcoma

    Amber SQSTM1 in Childhood solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 1.14

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    Phenotypes
    • Paget disease of bone 3 167250
    • Osteosarcoma

    Green SQSTM1 in Neurodegenerative disorders - adult onset


    Version 2.57
    Latest signed off version: v2.56 (16 Dec 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Yorkshire and North East GLH
    • Expert Review Green
    • NHS GMS
    • London North GLH

    Green SQSTM1 in Hereditary ataxia - adult onset


    Version 2.36
    Latest signed off version: v2.35 (16 Dec 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Neurodegeneration with ataxia, dystonia, and gaze palsy, 617145

    Green SQSTM1 in Sarcoma susceptibility


    Version 1.75
    Latest signed off version: v1.74 (8 Apr 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Paget disease of bone 3, OMIM:167250
    • Paget disease of bone 3, MONDO:0008176
    • Osteosarcoma (disease), MONDO:0009807

    No list SQSTM1 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.87
    Latest signed off version: v1.86 (16 Dec 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    Phenotypes
    • Myopathy, distal, with rimmed vacuoles , MIM#617158

    Green SQSTM1 in Severe Paediatric Disorders


    Version 1.66

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Paget disease of bone 3, 167250
    • Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145
    • Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437
    • Myopathy, distal, with rimmed vacuoles, 617158